ClinVar Miner

List of variants in gene combination ERCC2, KLC3 reported as uncertain significance for DNA repair disease

Included ClinVar conditions (134):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000400.4(ERCC2):c.*152T>C rs140285667 0.00157
NM_000400.4(ERCC2):c.*137G>A rs545076380 0.00005
NM_000400.4(ERCC2):c.*181G>T rs1048488855 0.00004
NM_000400.4(ERCC2):c.*167C>T rs200355865 0.00001
NM_000400.4(ERCC2):c.*119C>G rs560366651
NM_000400.4(ERCC2):c.*162G>T rs1162168169
NM_000400.4(ERCC2):c.*205_*206insA rs886054493
NM_000400.4(ERCC2):c.*224C>T rs771414914

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.